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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Camptosynpolydactyly, Complex
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Accession:DOID:9003579 term browser browse the term
Synonyms:exact_synonym: CCSPD;   Camptopolydactyly, Disorganization Type
 primary_id: MESH:C564383;   RDO:0013367
 alt_id: OMIM:607539
For additional species annotation, visit the Alliance of Genome Resources.


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Camptosynpolydactyly, Complex term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bhlha9 basic helix-loop-helix family, member a9 ISO OMIM NCBI chr10:63,498,267...63,500,353
Ensembl chr10:63,498,698...63,499,390
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      musculoskeletal system disease 5737
        Foot Deformities 132
          Congenital Foot Deformities 121
            Camptosynpolydactyly, Complex 1
Path 2
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        Congenital Abnormalities 4759
          Musculoskeletal Abnormalities 1759
            Congenital Limb Deformities 504
              Lower Extremity Deformities, Congenital 129
                Congenital Foot Deformities 121
                  Camptosynpolydactyly, Complex 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.